Xeroderma pigmentosa associated with spindle cell carcinoma of lung: a case report

Xeroderma pigmentosum is a rare autosomal recessive genetic disorder characterized by defective nucleotide excision repair, leading to extreme sensitivity to ultraviolet radiation, skin pigmentation changes, and a heightened risk of malignancies. Neurological symptoms, such as seizures and cognitive decline, are observed in 20% of cases. While xeroderma pigmentosa is commonly associated with skin cancers, systemic malignancies like lung carcinoma are exceedingly rare.

A 22-year-old male with a history of xeroderma pigmentosa presented with a six-month history of non-productive cough, hemoptysis, intermittent fever, and episodic jerky movements in his upper limb. Examination revealed hypo- and hyperpigmented macules, cachexia, cervical lymphadenopathy, and diminished air entry in the left lung. Blood tests indicated leukocytosis, elevated ESR, and abnormal electrolyte levels. Imaging confirmed a left lower lobe lung mass, and biopsy revealed spindle cell carcinoma with p53 positivity on immunohistochemistry.

Spindle cell carcinoma is a rare and aggressive subtype of non-small-cell lung cancer, comprising 0.2-0.3% of pulmonary malignancies. Its association with XP is notable, as defective DNA repair mechanisms in xeroderma pigmentosa predispose patients to malignancies driven by p53 mutations. This case emphasizes the need for vigilance for systemic malignancies in XP patients.

This is the first reported case of xeroderma pigmentosa associated with spindle cell carcinoma of the lung and focal seizures. It underscores the importance of early recognition and comprehensive surveillance for rare malignancies in XP patients, given their elevated cancer risk. The patient opted for palliative care and was symptomatically managed.